DISEASES

Disease-gene associations mined from literature

Literature associating EXTL2 and exostosis

EXTL2 [ENSP00000359132]

Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N- acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains.

Synonyms:  EXTL2,  EXTL2p,  hEXTL2,  C9IYF5,  C9JEG3 ...

Linkouts:  STRING  Pharos  UniProt